MarwanShinawiMD
Medical Genetics • Saint Louis, MOClinical Genetics, Medical Biochemical Genetics
Professor, Pediatrics, Division of Genetics and Genomic Medicine, Washington University School of Medicine
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Office
1 Childrens Pl
# Div
Saint Louis, MO 63110Phone+1 314-454-6093Fax+1 844-965-9624
Summary
- I am a clinical genetic specialist. My focus is on genomics, congenital malformation syndromes, skeletal dysplasia and bone diseases, chromosomal disorders, autistic spectrum disorders, metabolic disorders, and newborn screen for inborn errors of metabolism.
Education & Training
Baylor College of MedicineResidency, Medical Genetics and Genomics, 2003 - 2005
Technion-Israel Inst of Technology Faculty of MedicineClass of 1996
Certifications & Licensure
IL State Medical License 2021 - 2026
MO State Medical License 2009 - 2026
TX State Medical License 2005 - 2010- American Board of Medical Genetics and Genomics Clinical Genetics
- American Board of Medical Genetics and Genomics Medical Biochemical Genetics
Publications & Presentations
PubMed
- Atypical free sialic acid storage disorder associated with tissue specific mosaicism of SLC17A5.Marwan Shinawi, Daniel J Wegner, Alexander J Paul, William Buchser, Robert Schmidt
Molecular Genetics and Metabolism. 2025-01-01 - Structural variant allelic heterogeneity in MECP2 duplication syndrome provides insight into clinical severity and variability of disease expression.Davut Pehlivan, Jesse D Bengtsson, Sameer S Bajikar, Christopher M Grochowski, Ming Yin Lun
Genome Medicine. 2024-12-18 - The characterization of new de novo CACNA1G variants affecting the intracellular gate of Cav3.1 channel broadens the spectrum of neurodevelopmental phenotypes in SCA42ND.Leila Qebibo, Amaël Davakan, Mathilde Nesson-Dauphin, Najlae Boulali, Karine Siquier-Pernet
Genetics in Medicine. 2024-12-12
Journal Articles
- Variable Cardiovascular Phenotypes Associated with SMAD2 Pathogenic VariantsJoshua J Murphy, Daniel Wegner, Joshua Shimony, Marwan Shinawi, Leah Hecht, Human Mutation
- BCL11B Mutations in Patients Affected by a Neurodevelopmental Disorder with Reduced Type 2 Innate Lymphoid CellsSara S Cathey, Marwan Shinawi, Brain
- De Novo Mutation Screening in Childhood-Onset Cerebellar Atrophy Identifies Gain-of-Function Mutations in the CACNA1G Calcium Channel GeneMarwan Shinawi, MD, Brain
Press Mentions
St. Louis Metro Area Family Faces Rare Disease DiagnosisFebruary 22nd, 2023- Serendipity Unites Physicians, Researchers, Families to Fight Rare Genetic Disease in KidsMarch 24th, 2022
De Novo Variants in SNAP25 Cause an Early-Onset Developmental and Epileptic EncephalopathyDecember 10th, 2020- Join now to see all
Professional Memberships
- Member
- American College of Medical GeneticsF.A.C.M.G.
- American Society of Human GeneticsMember
Other Languages
- Arabic, Hebrew
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